Canonical Allele Identifier: CA471216056

Gene: PAX2

Linked Data

• gnomAD v4: 10-100749897-C-A
• MyVariant Identifiers: chr10:g.102509654C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100749897C>A , CM000672.2:g.100749897C>A	GRCh38
NC_000010.10:g.102509654C>A , CM000672.1:g.102509654C>A	GRCh37
NC_000010.9:g.102499644C>A	NCBI36
NG_008680.1:g.9187C>A
NG_008680.2:g.19189C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707078.1:c.288C>A	ENSP00000516729.1:p.Val96=
ENST00000707079.1:c.195C>A	ENSP00000516730.1:p.Val65=
ENST00000355243.8:c.195C>A MANE Select	ENSP00000347385.3:p.Val65=
ENST00000427256.6:c.195C>A	ENSP00000398652.2:p.Val65=
ENST00000679374.1:c.177C>A	ENSP00000506041.1:p.Val59=
ENST00000355243.7:c.195C>A	ENSP00000347385.2:p.Val65=
ENST00000361791.7:c.192C>A	ENSP00000355069.4:p.Val64=
ENST00000370296.6:c.195C>A	ENSP00000359319.3:p.Val65=
ENST00000427256.5:c.195C>A	ENSP00000398652.1:p.Val65=
ENST00000428433.5:c.195C>A	ENSP00000396259.1:p.Val65=
ENST00000483202.2:n.1197C>A
ENST00000553492.5:n.131+14164C>A
ENST00000554172.2:c.207C>A	ENSP00000452489.2:p.Val69=
ENST00000554363.2:n.125+3594C>A
NM_000278.3:c.195C>A	NP_000269.2:p.Val65=
NM_001304569.1:c.288C>A	NP_001291498.1:p.Val96=
NM_003987.3:c.195C>A	NP_003978.2:p.Val65=
NM_003988.3:c.195C>A	NP_003979.2:p.Val65=
NM_003989.3:c.195C>A	NP_003980.2:p.Val65=
NM_003990.3:c.195C>A	NP_003981.2:p.Val65=
NM_000278.4:c.195C>A	NP_000269.3:p.Val65=
NM_003987.4:c.195C>A	NP_003978.3:p.Val65=
NM_003988.4:c.195C>A	NP_003979.2:p.Val65=
NM_003989.4:c.195C>A	NP_003980.3:p.Val65=
NM_003990.4:c.195C>A	NP_003981.3:p.Val65=
NM_000278.5:c.195C>A MANE Select	NP_000269.3:p.Val65=
NM_001304569.2:c.288C>A	NP_001291498.1:p.Val96=
NM_003987.5:c.195C>A	NP_003978.3:p.Val65=
NM_003988.5:c.195C>A	NP_003979.2:p.Val65=
NM_003989.5:c.195C>A	NP_003980.3:p.Val65=
NM_003990.5:c.195C>A	NP_003981.3:p.Val65=